Canonical Allele Identifier: CA351808746

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1300006
• ClinVar RCV Id: RCV001730458
• dbSNP Id: rs2125436866
• MyVariant Identifiers: chr3:g.30713874T>A (hg19) ; chr3:g.30672382T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672382T>A , CM000665.2:g.30672382T>A	GRCh38
NC_000003.11:g.30713874T>A , CM000665.1:g.30713874T>A	GRCh37
NC_000003.10:g.30688878T>A	NCBI36
NG_007490.1:g.70881T>A , LRG_779:g.70881T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1199T>A MANE Select	ENSP00000295754.5:p.Leu400His
ENST00000672866.1:n.2795T>A
ENST00000295754.9:c.1199T>A	ENSP00000295754.5:p.Leu400His
ENST00000359013.4:c.1274T>A	ENSP00000351905.4:p.Leu425His
NM_001024847.2:c.1274T>A , LRG_779t1:c.1274T>A	NP_001020018.1:p.Leu425His
NM_003242.5:c.1199T>A	NP_003233.4:p.Leu400His
XM_011534043.1:c.1226T>A	XP_011532345.1:p.Leu409His
XM_011534044.1:c.1151T>A	XP_011532346.1:p.Leu384His
XM_011534045.1:c.1094T>A	XP_011532347.1:p.Leu365His
XM_011534043.2:c.1226T>A	XP_011532345.1:p.Leu409His
XM_011534045.3:c.1094T>A	XP_011532347.1:p.Leu365His
XM_017007106.1:c.1094T>A	XP_016862595.1:p.Leu365His
NM_003242.6:c.1199T>A MANE Select	NP_003233.4:p.Leu400His